Canonical Allele Identifier: CA2689808610
Gene: GALT HGNC NCBI

Linked Data

gnomAD v4: 9-34647429-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647429G>A , CM000671.2:g.34647429G>A GRCh38
NC_000009.11:g.34647426G>A , CM000671.1:g.34647426G>A GRCh37
NC_000009.10:g.34637426G>A NCBI36
NG_009029.1:g.5792G>A
NG_028966.1:g.245G>A
NG_009029.2:g.5841G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.253-63G>A ENSP00000509954.1:n.253-63G>A
ENST00000378842.8:c.253-63G>A MANE Select ENSP00000368119.4:n.253-63G>A
ENST00000378842.7:c.253-63G>A ENSP00000368119.3:n.253-63G>A
ENST00000450095.6:c.50+171G>A ENSP00000401956.2:n.50+171G>A
ENST00000465543.6:n.592-63G>A
ENST00000468099.2:n.463G>A
ENST00000472111.5:n.294-63G>A
ENST00000473506.6:c.253-112G>A ENSP00000432839.2:n.253-112G>A
ENST00000473529.5:n.300-63G>A
ENST00000485531.1:n.416G>A
ENST00000487381.5:n.449G>A
ENST00000489643.6:n.282+171G>A
ENST00000554085.5:c.253-46G>A ENSP00000450419.1:n.253-46G>A
ENST00000554139.5:n.306-63G>A
ENST00000554330.5:n.250-112G>A
ENST00000554550.5:c.252+171G>A ENSP00000451435.1:n.252+171G>A
ENST00000554638.5:n.447G>A
ENST00000554897.5:c.252+171G>A ENSP00000450942.1:n.252+171G>A
ENST00000554944.5:n.283-112G>A
ENST00000555020.5:n.283-63G>A
ENST00000555086.5:n.257-63G>A
ENST00000555214.5:n.261+171G>A
ENST00000556157.1:n.360-46G>A
ENST00000556244.1:c.177G>A
ENST00000556278.1:c.252+171G>A ENSP00000451792.1:n.252+171G>A
ENST00000556403.5:n.266-63G>A
ENST00000556494.5:n.285-63G>A
ENST00000557541.5:n.446-112G>A
ENST00000557706.5:n.537G>A
NM_000155.3:c.253-63G>A NP_000146.2:n.253-63G>A
NM_001258332.1:c.50+171G>A NP_001245261.1:n.50+171G>A
NM_000155.4:c.253-63G>A MANE Select NP_000146.2:n.253-63G>A
NM_001258332.2:c.50+171G>A NP_001245261.1:n.50+171G>A